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This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a component of the SURF complex which promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 6, 7, and X. [provided by RefSeq, Aug 2013]
[中文简述(自动翻译):] 该基??因编码一个1类多肽链释放因子。所编码的蛋白在从终止密码子UAA,UAG和UGA引导mRNA翻译的终止了至关重要的作用。这种蛋白质是SURF复杂经由无义介导的mRNA降解(NMD)的机制促进过早终止mRNA的降解的组分。选择性剪接结果在多个抄本变形。该基因的假基因在染色体6,7发现,和X [由RefSeq的,2013年8月提供]
ETF1基因(以及对应的蛋白质)的细胞分布位置:
ETF1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Schizophrenia | 0.12 | 1 | 1 | GWASCAT |
Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Kidney Failure, Chronic | 0.000542884 | 2 | 0 | BeFree |
Kidney Failure | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Endometrial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Complex craniosynostosis | 0.000271442 | 1 | 0 | BeFree |
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